Canonical Allele Identifier: CA2717851747

Gene: NBN

Linked Data

• dbSNP Id: rs2129659225

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947806_89947807insTTT , CM000670.2:g.89947806_89947807insTTT	GRCh38
NC_000008.10:g.90960034_90960035insTTT , CM000670.1:g.90960034_90960035insTTT	GRCh37
NC_000008.9:g.91029210_91029211insTTT	NCBI36
NG_008860.1:g.41867_41868insAAA , LRG_158:g.41867_41868insAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3216+19_3216+20insAAA
ENST00000517337.2:c.1668+19_1668+20insAAA	ENSP00000429971.2:n.1668+19_1668+20insAAA
ENST00000523444.2:c.1668+19_1668+20insAAA	ENSP00000428252.2:n.1668+19_1668+20insAAA
ENST00000697292.1:c.1914+19_1914+20insAAA	ENSP00000513229.1:n.1914+19_1914+20insAAA
ENST00000697293.1:c.1914+19_1914+20insAAA	ENSP00000513230.1:n.1914+19_1914+20insAAA
ENST00000697294.1:c.*1525+19_*1525+20insAAA	ENSP00000513231.1:n.*1525+19_*1525+20insAAA
ENST00000697295.1:c.*1223+19_*1223+20insAAA	ENSP00000513232.1:n.*1223+19_*1223+20insAAA
ENST00000697296.1:c.*1582+19_*1582+20insAAA	ENSP00000513233.1:n.*1582+19_*1582+20insAAA
ENST00000697297.1:n.3699+19_3699+20insAAA
ENST00000697298.1:c.1668+19_1668+20insAAA	ENSP00000513234.1:n.1668+19_1668+20insAAA
ENST00000697299.1:c.1668+19_1668+20insAAA	ENSP00000513235.1:n.1668+19_1668+20insAAA
ENST00000697300.1:c.*1518+19_*1518+20insAAA	ENSP00000513236.1:n.*1518+19_*1518+20insAAA
ENST00000697301.1:c.*1435+19_*1435+20insAAA	ENSP00000513237.1:n.*1435+19_*1435+20insAAA
ENST00000697302.1:c.*1435+19_*1435+20insAAA	ENSP00000513238.1:n.*1435+19_*1435+20insAAA
ENST00000697303.1:c.*1518+19_*1518+20insAAA	ENSP00000513239.1:n.*1518+19_*1518+20insAAA
ENST00000697304.1:c.1602+19_1602+20insAAA	ENSP00000513240.1:n.1602+19_1602+20insAAA
ENST00000697306.1:c.*956_*957insAAA	ENSP00000513241.1:n.*956_*957insAAA
ENST00000697307.1:c.1846-4439_1846-4438insAAA	ENSP00000513242.1:n.1846-4439_1846-4438insAAA
ENST00000697308.1:c.1846-1510_1846-1509insAAA	ENSP00000513243.1:n.1846-1510_1846-1509insAAA
ENST00000697309.1:c.1914+19_1914+20insAAA	ENSP00000513244.1:n.1914+19_1914+20insAAA
ENST00000697310.1:c.1914+19_1914+20insAAA	ENSP00000513245.1:n.1914+19_1914+20insAAA
ENST00000697311.1:c.1914+19_1914+20insAAA	ENSP00000513246.1:n.1914+19_1914+20insAAA
ENST00000697312.1:c.*1312+19_*1312+20insAAA	ENSP00000513247.1:n.*1312+19_*1312+20insAAA
ENST00000697313.1:n.2688-12193_2688-12192insAAA
ENST00000697314.1:n.3636+5439_3636+5440insAAA
ENST00000697315.1:c.1914+19_1914+20insAAA	ENSP00000513248.1:n.1914+19_1914+20insAAA
ENST00000697316.1:n.2035+19_2035+20insAAA
ENST00000697317.1:n.2005+38_2005+39insAAA
ENST00000265433.8:c.1914+19_1914+20insAAA MANE Select	ENSP00000265433.4:n.1914+19_1914+20insAAA
ENST00000265433.7:c.1914+19_1914+20insAAA	ENSP00000265433.3:n.1914+19_1914+20insAAA
ENST00000396252.6:c.*1787+19_*1787+20insAAA	ENSP00000379551.2:n.*1787+19_*1787+20insAAA
ENST00000409330.5:c.1668+19_1668+20insAAA	ENSP00000386924.1:n.1668+19_1668+20insAAA
ENST00000613033.1:c.180+19_180+20insAAA	ENSP00000484487.1:n.180+19_180+20insAAA
NM_001024688.2:c.1668+19_1668+20insAAA	NP_001019859.1:n.1668+19_1668+20insAAA
NM_002485.4:c.1914+19_1914+20insAAA , LRG_158t1:c.1914+19_1914+20insAAA	NP_002476.2:n.1914+19_1914+20insAAA
XM_011517044.1:c.1890+19_1890+20insAAA	XP_011515346.1:n.1890+19_1890+20insAAA
XM_011517045.1:c.1668+19_1668+20insAAA	XP_011515347.1:n.1668+19_1668+20insAAA
XR_928335.1:n.2053+19_2053+20insAAA
XM_017013460.1:c.1035+19_1035+20insAAA	XP_016868949.1:n.1035+19_1035+20insAAA
XM_017013462.2:c.1035+19_1035+20insAAA	XP_016868951.1:n.1035+19_1035+20insAAA
XM_024447163.1:c.1668+19_1668+20insAAA	XP_024302931.1:n.1668+19_1668+20insAAA
XM_024447164.1:c.1668+19_1668+20insAAA	XP_024302932.1:n.1668+19_1668+20insAAA
XM_024447165.1:c.1035+19_1035+20insAAA	XP_024302933.1:n.1035+19_1035+20insAAA
NM_002485.5:c.1914+19_1914+20insAAA MANE Select	NP_002476.2:n.1914+19_1914+20insAAA
NM_001024688.3:c.1668+19_1668+20insAAA	NP_001019859.1:n.1668+19_1668+20insAAA